Results 81 to 90 of about 1,362 (197)

EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway

Human Genomics, 2019
Background Mandibulofacial dysostosis with microcephaly (MFDM) is characteristic of multiple skeletal anomalies comprising craniofacial anomalies/dysplasia, microcephaly, dysplastic ears, choanal atresia, and short stature.
Jing Wu, Yi Yang, You He, Qiang Li, Xu Wang, Chengjun Sun, Lishun Wang, Yu An, Feihong Luo   +8 more
doaj   +1 more source

Orofacial features of Treacher Collins syndrome [PDF]

, 2009
Treacher Collins syndrome (TCS) is a rare autosomal dominant disorder of craniofacial development. Major features include midface hypoplasia, micrognathia, microtia, conductive hearing loss, and cleft palate.
Bonan,Paulo Rogério Ferreti, de Barros,Letízia Monteiro, Della Coletta,Ricardo, Martelli Júnior,Hercílio, Miranda,Roseli Teixeira, Swerts,Mário Sérgio Oliveira   +5 more
core  

A CASE OF TREACHER COLLINS SYNDROME

Balkan Journal of Medical Genetics, 2013
Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with an incidence of 1/50,000 live births. Mutations of the TCOF1 gene have been found to be responsible for most cases of this mandibulofacial disorder.
Ulusal S., Gürkan H., Vatansever Ü., Kürkçü K., Tozkir H., Acunaş Ba.   +5 more
doaj   +1 more source

Treacher collins syndrome - Report of a classical case

Journal of Cleft Lip Palate and Craniofacial Anomalies, 2017
Treacher Collins syndrome (TCS) or Franceschetti syndrome is an autosomal dominant disorder of craniofacial development with variable expressivity. Incidence of this syndrome is approximately 1 in 50,000 live births and it affects both genders equally ...
Shweta Gangotri Sumbh, Jaishree Pagare, Bharat Sumbh   +2 more
doaj   +1 more source

Evolution of a child with Treacher Collins syndrome undergoing physiotherapeutic treatment [PDF]

, 2017
Introduction: Treacher Collins syndrome, or mandibulofacial dysostosis, is a hereditary disorder and is manifested by craniofacial malformations. The incidence is close to one case per 40,000 live births, without relation to gender or race.
Gualberto Guimarães, Pryscilla, Martins Roberto Formiga, Cibelle Kayenne, Pavan Viana, Fabiana, Rodrigues, Bárbara Gabriela da S, Silva, Juliane Leonardo Oliveira Silva   +4 more
core   +1 more source

Oculo-auriculo-vertebral Spectrum (Goldenhar′s Syndrome) - A Case Report

Journal of Indian Academy of Oral Medicine and Radiology, 2005
Goldenhar′s syndrome also known as Hemifacial microsomia and Oculo auriculo vertebral dysplasia is a type of mandibulofacial dysostosis, with ocular problems, abnormal pinna, a small mandible and epibulbar dermoids.
N Mohan
doaj  

Hearing Screening Of Infants In Neonatal Unit, Hospital Universiti Sains Malaysia Using Transient Evoked Otoacoustic Emissions [PDF]

, 2001
Objective: this prospective study reports on the prevalence of hearing impairment in neonatal unit population (NICU graduates and less severe ill infants).
Md. Daud, Mohd Khairi
core   +1 more source

Treacher Collins Syndrome: A Case Report and Review of Literature

Journal of Pediatrics Review, 2019
Introduction: Treacher Collins Syndrome (TCS) is an inherited and rare, autosomal dominant condition of craniofacial malformation with varying degrees of penetrance and expression that has been described extensively in the scientific literature with more
Effat Khodadadi, Zahra Dehghan
doaj  

A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report. [PDF]

Cold Spring Harb Mol Case Stud, 2022
Kohailan M, Al-Saei O, Padmajeya S, Aamer W, Elbashir N, Al-Shabeeb Akil A, Kamboh AR, Fakhro K.   +7 more
europepmc   +1 more source

Prenatal features of mandibulofacial dysostosis Guion-Almeida Type. [PDF]

J Med Life, 2021
Dragoi V, Nedelea F, Gica N, Botezatu R, Peltecu G, Panaitescu AM.   +5 more
europepmc   +1 more source